Linked Data
ClinVar Variation Id:
2076369
ClinVar RCV Id:
RCV002972280
dbSNP Id:
rs113728103
ExAC:
3:195597011 G / T
gnomAD v2:
3-195597011-G-T
gnomAD v3:
3-195870140-G-T
gnomAD v4:
3-195870140-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.195870140G>T , CM000665.2:g.195870140G>T | GRCh38 |
| NC_000003.11:g.195597011G>T , CM000665.1:g.195597011G>T | GRCh37 |
| NC_000003.10:g.197081408G>T | NCBI36 |
| NG_029779.1:g.43870C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000672887.2:c.1517C>A MANE Select | ENSP00000499899.1:p.Pro506His | |
| ENST00000333602.14:c.1517C>A | ENSP00000329425.6:p.Pro506His | |
| ENST00000381916.7:c.1706C>A | ENSP00000371341.2:p.Pro569His | |
| ENST00000428187.7:c.1613C>A | ENSP00000392546.1:p.Pro538His | |
| ENST00000439230.6:c.*129C>A | ENSP00000395588.1:n.*129C>A | |
| ENST00000671753.1:c.1589C>A | ENSP00000499858.1:p.Pro530His | |
| ENST00000671767.1:c.311C>A | ENSP00000499862.1:p.Pro104His | |
| ENST00000672024.1:c.1517C>A | ENSP00000500486.1:p.Pro506His | |
| ENST00000672098.1:c.47C>A | ENSP00000500684.1:p.Pro16His | |
| ENST00000672320.1:n.367C>A | ||
| ENST00000672548.1:c.47C>A | ENSP00000500238.1:p.Pro16His | |
| ENST00000672614.1:n.4025C>A | ||
| ENST00000672669.1:c.47C>A | ENSP00000500276.1:p.Pro16His | |
| ENST00000672886.1:c.47C>A | ENSP00000500479.1:p.Pro16His | |
| ENST00000672887.1:c.1517C>A | ENSP00000499899.1:p.Pro506His | |
| ENST00000673038.1:c.1613C>A | ENSP00000500452.1:p.Pro538His | |
| ENST00000673358.1:n.1114C>A | ||
| ENST00000673374.1:c.*492C>A | ENSP00000500225.1:n.*492C>A | |
| ENST00000673420.1:c.1517C>A | ENSP00000500887.1:p.Pro506His | |
| ENST00000673440.1:n.29C>A | ||
| ENST00000678220.1:c.1613C>A | ENSP00000503221.1:p.Pro538His | |
| ENST00000333602.10:c.1517C>A | ENSP00000329425.6:p.Pro506His | |
| ENST00000381916.6:c.1706C>A | ENSP00000371341.2:p.Pro569His | |
| ENST00000411741.1:c.452C>A | ENSP00000415126.1:p.Pro151His | |
| ENST00000416152.5:c.173C>A | ENSP00000398614.1:p.Pro58His | |
| ENST00000424563.5:c.346C>A | ||
| ENST00000428187.5:c.1613C>A | ENSP00000392546.1:p.Pro538His | |
| ENST00000439230.5:c.*129C>A | ENSP00000395588.1:n.*129C>A | |
| ENST00000464041.5:n.1622C>A | ||
| ENST00000478623.5:n.335C>A | ||
| ENST00000478715.1:n.367C>A | ||
| ENST00000481865.5:n.4025C>A | ||
| ENST00000489628.1:n.1114C>A | ||
| ENST00000495247.5:n.29C>A | ||
| NM_001010938.1:c.1706C>A | NP_001010938.1:p.Pro569His | |
| NM_001308046.1:c.1613C>A | NP_001294975.1:p.Pro538His | |
| NM_005781.4:c.1517C>A | NP_005772.3:p.Pro506His | |
| XM_005269268.3:c.1706C>A | XP_005269325.1:p.Pro569His | |
| XM_005269270.3:c.1517C>A | XP_005269327.1:p.Pro506His | |
| XM_005269274.3:c.800C>A | XP_005269331.1:p.Pro267His | |
| XM_005269275.3:c.575C>A | XP_005269332.1:p.Pro192His | |
| XM_011512317.1:c.2009C>A | XP_011510619.1:p.Pro670His | |
| XM_011512318.1:c.1517C>A | XP_011510620.1:p.Pro506His | |
| XM_011512319.1:c.1517C>A | XP_011510621.1:p.Pro506His | |
| XM_011512320.1:c.1517C>A | XP_011510622.1:p.Pro506His | |
| XM_011512321.1:c.1289C>A | XP_011510623.1:p.Pro430His | |
| XM_011512317.3:c.2009C>A | XP_011510619.1:p.Pro670His | |
| XM_011512318.2:c.1613C>A | XP_011510620.2:p.Pro538His | |
| XM_011512321.2:c.1289C>A | XP_011510623.1:p.Pro430His | |
| XM_017005508.1:c.1613C>A | XP_016860997.1:p.Pro538His | |
| XM_017005509.1:c.1613C>A | XP_016860998.1:p.Pro538His | |
| XM_017005510.1:c.1613C>A | XP_016860999.1:p.Pro538His | |
| XM_024453291.1:c.1709C>A | XP_024309059.1:p.Pro570His | |
| XM_024453292.1:c.1568C>A | XP_024309060.1:p.Pro523His | |
| XM_024453293.1:c.1517C>A | XP_024309061.1:p.Pro506His | |
| XM_024453294.1:c.1517C>A | XP_024309062.1:p.Pro506His | |
| XM_024453295.1:c.1517C>A | XP_024309063.1:p.Pro506His | |
| NM_001010938.2:c.1589C>A | NP_001010938.2:p.Pro530His | |
| NM_001308046.2:c.1613C>A | NP_001294975.1:p.Pro538His | |
| NM_001382271.1:c.1613C>A | NP_001369200.1:p.Pro538His | |
| NM_001382272.1:c.1589C>A | NP_001369201.1:p.Pro530His | |
| NM_001382273.1:c.1517C>A MANE Select | NP_001369202.1:p.Pro506His | |
| NM_001382274.1:c.1517C>A | NP_001369203.1:p.Pro506His | |
| NM_001382275.1:c.1613C>A | NP_001369204.1:p.Pro538His | |
| NM_001386164.1:c.1517C>A | NP_001373093.1:p.Pro506His | |
| NM_001387707.1:c.1613C>A | NP_001374636.1:p.Pro538His | |
| NM_001387708.1:c.1589C>A | NP_001374637.1:p.Pro530His | |
| NM_001387709.1:c.1517C>A | NP_001374638.1:p.Pro506His | |
| NM_001387710.1:c.1517C>A | NP_001374639.1:p.Pro506His | |
| NM_001387711.1:c.1517C>A | NP_001374640.1:p.Pro506His | |
| NM_001387712.1:c.1517C>A | NP_001374641.1:p.Pro506His | |
| NM_001387713.1:c.1517C>A | NP_001374642.1:p.Pro506His | |
| NM_001387714.1:c.1517C>A | NP_001374643.1:p.Pro506His | |
| NM_001387715.1:c.1589C>A | NP_001374644.1:p.Pro530His | |
| NM_001387716.1:c.1517C>A | NP_001374645.1:p.Pro506His | |
| NM_001387717.1:c.1517C>A | NP_001374646.1:p.Pro506His | |
| NM_001387718.1:c.1517C>A | NP_001374647.1:p.Pro506His | |
| NM_001387719.1:c.1517C>A | NP_001374648.1:p.Pro506His | |
| NM_001387720.1:c.1517C>A | NP_001374649.1:p.Pro506His | |
| NM_001387721.1:c.1517C>A | NP_001374650.1:p.Pro506His | |
| NM_005781.5:c.1517C>A | NP_005772.3:p.Pro506His | |
| NR_170678.1:n.1764C>A | ||
| NR_170679.1:n.2068C>A | ||
| NR_170680.1:n.1775C>A | ||
| NR_170681.1:n.1775C>A | ||
| NR_170682.1:n.2042C>A | ||
| NR_170683.1:n.2042C>A | ||
| NR_170684.1:n.1455C>A | ||
| NR_170685.1:n.1913C>A | ||
| NR_170686.1:n.1826C>A | ||
| NR_170687.1:n.1756C>A | ||
| NR_170688.1:n.2042C>A | ||
| NR_170689.1:n.1556C>A | ||
| NR_170690.1:n.1367C>A | ||
| NR_170691.1:n.1714C>A | ||
| NR_170692.1:n.1324C>A |